Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300209 http://purl.bioontology.org/ontology/OMIM/300209
Preferred Name	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
Synonyms	SGBS2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SGBS2
prefLabel	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
Gene Symbol	RP23 OFD1 SGBS2 CXorf5 JBTS10
Scope Statement	Caused by mutation in the OFD1 gene (OFD1, 300170.0007) [MOLECULAR BASIS] One family has been reported (last curated March 2016) [MISCELLANEOUS] Death in infancy may occur [MISCELLANEOUS] Severe phenotype [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036517 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU008535 http://purl.bioontology.org/ontology/OMIM/MTHU008533 http://purl.bioontology.org/ontology/OMIM/MTHU036366 http://purl.bioontology.org/ontology/OMIM/MTHU002335 http://purl.bioontology.org/ontology/OMIM/MTHU000250 See more See less
tui	T047
Gene Locus	Xp22.3-p22.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300209
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1846175
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display